Work

Reclassification of BRCA1 and BRCA2 Variants of Unknown Significance in a Turkish Cohort; A Single-Center, Retrospective Study

Year: 2025

Type: article

Abstract: Key Points •Breast cancer susceptibility gene (BRCA)1/BRCA2 sequence data was retrospectively analysed to reclassify BRCA1/2 variants of unknown significance (VUS) in Turkish patients with breast, ovarian, and prostate cancers for improved clinical decision-making..• Retrospective analysis of BRCA1/2 sequencing data from 2,713 patients using American College of Medical Genetics guidelines, Evidence-based Network for the Interpretation of Germline Mutant Alleles rules, and public genomic databases.• VUS reclassification is crucial for accurate BRCA1/2 variant interpretation, impacting treatment, surgical planning, and genetic counseling.

Source: European Journal of Breast Health

DOI: 10.4274/ejbh.galenos.2025.2025-5-2

Authors: Leyla Özer, Süleyman Aktuna, Evrim Ünsal

Institution: Yüksek İhtisas Üniversitesi

Language: English

Topic: BRCA gene mutations in cancer

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4413538696